Linked Data
ClinVar Variation Id:
402189
dbSNP Id:
rs1060499762
gnomAD v4:
4-112647384-A-T
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112647384A>T , CM000666.2:g.112647384A>T | GRCh38 |
| NC_000004.11:g.113568540A>T , CM000666.1:g.113568540A>T | GRCh37 |
| NC_000004.10:g.113787989A>T | NCBI36 |
| NG_032779.1:g.15421A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505034.6:c.832A>T (LARP7) | ENSP00000421541.2:p.Lys278Ter | |
| ENST00000505216.2:c.*591A>T (LARP7) | ENSP00000424116.1:n.*591A>T | |
| ENST00000694891.1:c.829A>T (LARP7) | ENSP00000511571.1:p.Lys277Ter | |
| ENST00000694894.1:c.832A>T (LARP7) | ENSP00000511572.1:p.Lys278Ter | |
| ENST00000694895.1:c.832A>T (LARP7) | ENSP00000511573.1:p.Lys278Ter | |
| ENST00000694896.1:c.832A>T (LARP7) | ENSP00000511574.1:p.Lys278Ter | |
| ENST00000694897.1:c.*231A>T (LARP7) | ENSP00000511575.1:n.*231A>T | |
| ENST00000694898.1:c.832A>T (LARP7) | ENSP00000511576.1:p.Lys278Ter | |
| ENST00000694899.1:c.829A>T (LARP7) | ENSP00000511577.1:p.Lys277Ter | |
| ENST00000694900.1:c.832A>T (LARP7) | ENSP00000511578.1:p.Lys278Ter | |
| ENST00000694901.1:c.*591A>T (LARP7) | ENSP00000511579.1:n.*591A>T | |
| ENST00000511529.2:c.829A>T (LARP7) | ENSP00000426376.2:p.Lys277Ter | |
| ENST00000512361.2:n.1012A>T (LARP7) | ||
| ENST00000512589.6:c.*638A>T (LARP7) | ENSP00000426709.1:n.*638A>T | |
| ENST00000684864.1:c.832A>T (LARP7) | ENSP00000509993.1:p.Lys278Ter | |
| ENST00000688617.1:n.1106A>T (LARP7) | ||
| ENST00000689262.1:n.1983A>T (LARP7) | ||
| ENST00000689844.1:c.832A>T (LARP7) | ENSP00000509899.1:p.Lys278Ter | |
| ENST00000690008.1:c.*591A>T (LARP7) | ENSP00000508938.1:n.*591A>T | |
| ENST00000692075.1:n.1068A>T (LARP7) | ||
| ENST00000692168.1:n.998A>T (LARP7) | ||
| ENST00000692416.1:c.595A>T (LARP7) | ENSP00000509527.1:p.Lys199Ter | |
| ENST00000693375.1:c.595A>T (LARP7) | ENSP00000508585.1:p.Lys199Ter | |
| ENST00000693442.1:c.832A>T (LARP7) | ENSP00000509975.1:p.Lys278Ter | |
| ENST00000344442.10:c.832A>T (LARP7) MANE Select | ENSP00000344950.5:p.Lys278Ter | |
| ENST00000651579.1:c.832A>T (LARP7) | ENSP00000499190.1:p.Lys278Ter | |
| ENST00000324052.10:c.832A>T (LARP7) | ENSP00000314311.6:p.Lys278Ter | |
| ENST00000344442.9:c.832A>T (LARP7) | ENSP00000344950.5:p.Lys278Ter | |
| ENST00000505034.5:c.832A>T (LARP7) | ENSP00000421541.1:p.Lys278Ter | |
| ENST00000509061.5:c.853A>T (LARP7) | ENSP00000422626.1:p.Lys285Ter | |
| ENST00000509622.5:c.*591A>T (LARP7) | ENSP00000422451.1:n.*591A>T | |
| ENST00000511529.1:c.174A>T (LARP7) | ||
| ENST00000513553.5:c.31-335A>T (LARP7) | ENSP00000422013.1:n.31-335A>T | |
| NM_001267039.1:c.853A>T (LARP7) | NP_001253968.1:p.Lys285Ter | |
| NM_015454.2:c.832A>T (LARP7) | NP_056269.1:p.Lys278Ter | |
| NM_016648.3:c.832A>T (LARP7) | NP_057732.2:p.Lys278Ter | |
| NR_049768.1:n.1007A>T (LARP7) | ||
| NR_146092.1:n.148-416T>A (MIR302CHG) | ||
| NR_146093.1:n.103+31T>A (MIR302CHG) | ||
| NR_146094.1:n.51-416T>A (MIR302CHG) | ||
| XM_024454080.1:c.832A>T (LARP7) | XP_024309848.1:p.Lys278Ter | |
| XM_024454081.1:c.832A>T (LARP7) | XP_024309849.1:p.Lys278Ter | |
| XM_024454082.1:c.832A>T (LARP7) | XP_024309850.1:p.Lys278Ter | |
| XM_024454083.1:c.832A>T (LARP7) | XP_024309851.1:p.Lys278Ter | |
| XM_024454084.1:c.832A>T (LARP7) | XP_024309852.1:p.Lys278Ter | |
| XM_024454085.1:c.832A>T (LARP7) | XP_024309853.1:p.Lys278Ter | |
| XM_024454086.1:c.595A>T (LARP7) | XP_024309854.1:p.Lys199Ter | |
| XM_024454087.1:c.595A>T (LARP7) | XP_024309855.1:p.Lys199Ter | |
| XM_024454088.1:c.595A>T (LARP7) | XP_024309856.1:p.Lys199Ter | |
| XM_024454089.1:c.151A>T (LARP7) | XP_024309857.1:p.Lys51Ter | |
| NM_016648.4:c.832A>T (LARP7) MANE Select | NP_057732.2:p.Lys278Ter | |
| NM_001370974.1:c.832A>T (LARP7) | NP_001357903.1:p.Lys278Ter | |
| NM_001370975.1:c.832A>T (LARP7) | NP_001357904.1:p.Lys278Ter | |
| NM_001370976.1:c.829A>T (LARP7) | NP_001357905.1:p.Lys277Ter | |
| NM_001370977.1:c.829A>T (LARP7) | NP_001357906.1:p.Lys277Ter | |
| NM_001370978.1:c.832A>T (LARP7) | NP_001357907.1:p.Lys278Ter | |
| NM_001370979.1:c.829A>T (LARP7) | NP_001357908.1:p.Lys277Ter | |
| NM_001370980.1:c.829A>T (LARP7) | NP_001357909.1:p.Lys277Ter | |
| NM_001370981.1:c.595A>T (LARP7) | NP_001357910.1:p.Lys199Ter | |
| NM_001370982.1:c.595A>T (LARP7) | NP_001357911.1:p.Lys199Ter | |
| NM_001267039.2:c.853A>T (LARP7) | NP_001253968.1:p.Lys285Ter | |
| NM_015454.3:c.832A>T (LARP7) | NP_056269.1:p.Lys278Ter | |
| NM_001267039.4:c.832A>T (LARP7) | NP_001253968.2:p.Lys278Ter |